Variants studied for 3-methylglutaconic aciduria type 1

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
22	7	103	63	12	198

Gene and significance breakdown #

Total genes and gene combinations: 4

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Gene or gene combination	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
AUH	17	7	81	52	9	157
AUH, LOC130002059	4	0	21	11	3	39
AUH, NFIL3, ROR2	0	0	1	0	0	1
MT-TL1	1	0	0	0	0	1

Submitter and significance breakdown #

Total submitters: 15

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Submitter	pathogenic	likely pathogenic	uncertain significance	likely benign	benign	total
Invitae	10	5	84	62	10	171
Illumina Laboratory Services, Illumina	0	0	19	0	7	26
OMIM	10	0	0	0	0	10
Fulgent Genetics, Fulgent Genetics	1	0	4	1	1	7
Revvity Omics, Revvity	0	0	4	0	0	4
Baylor Genetics	0	0	2	0	0	2
Elsea Laboratory, Baylor College of Medicine	0	0	2	0	0	2
Mayo Clinic Laboratories, Mayo Clinic	0	0	2	0	0	2
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India	1	1	0	0	0	2
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	1	0	0	0	0	1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute	1	0	0	0	0	1
Quest Diagnostics Nichols Institute San Juan Capistrano	0	1	0	0	0	1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota	1	0	0	0	0	1
Genome-Nilou Lab	0	0	0	0	1	1
3billion	1	0	0	0	0	1

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